该基因编码一个包含适配蛋白的pleckstrin同源结构域。编码的蛋白质定位在质膜上,在质膜上特异性结合磷脂酰肌醇3,4-二磷酸。这种蛋白可能参与了质膜信号复合物的形成。该基因多态性与年龄相关性黄斑变性有关。交替剪接导致多个转录变体。在5号染色体上发现了该基因的假基因。[由RefSeq提供,2010年9月]
This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
基因名: | PLEKHA1 |
别名: | TAPP1 |
基因ID: | 59338 |
Chromosome: (GRCh37) | 10 Start: 124134094 End: 124191871 Strand: |
信号通路: |